Abstract:
:Substitutions of single glycine residues of alpha 1(I) collagen have previously been associated with the inherited disease osteogenesis imperfecta type II. Transgenic mice bearing a mutant alpha 1(I) collagen gene into which specific glycine substitutions have been engineered show a dominant lethal phenotype characteristic of the human disease, and demonstrate that as little as 10% mutant gene expression can disrupt normal collagen function.
journal_name
Naturejournal_title
Natureauthors
Stacey A,Bateman J,Choi T,Mascara T,Cole W,Jaenisch Rdoi
10.1038/332131a0subject
Has Abstractpub_date
1988-03-10 00:00:00pages
131-6issue
6160eissn
0028-0836issn
1476-4687journal_volume
332pub_type
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